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Article

A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).

Dermatology (Basel, Switzerland) - 1 Jan 2010

Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B

Abstract excerpt

BACKGROUND: The multiple cutaneous and uterine leiomyomatosis syndrome (MCUL) is a rare autosomal dominant condition characterized by cutaneous leiomyomatosis in both sexes and uterine leiomyomas in women. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. METHODS: We report an Italian family in which the finding of multiple cutaneous leiomyomas in the proband, a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21051878
DOI: 10.1159/000321336

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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